Hereditary Spherocytosis

What is hereditary spherocytosis?

Hereditary spherocytosis (HS) is a disorder of the surface,
called the membrane, of your red blood cells. It causes your red blood cells to
be shaped like spheres instead of flattened discs that curve inward. The spherical
cells are less flexible than normal red blood cells.

In a healthy body, the spleen starts the
immune system’s response to infections. The spleen filters bacteria and damaged
cells out of the blood stream. However, spherocytosis makes it difficult for
red blood cells to pass through your spleen due to the cells’ shape and
stiffness.

The irregular shape of the red blood cells can cause the
spleen to break them down faster. This breakdown process is called hemolytic anemia.
A normal red blood cell can live for up to 120 days, but red blood cell with
hereditary spherocytosis might live for as few as 10 to 30 days.

Symptoms

Hereditary spherocytosis can range from mild to severe. Symptoms
vary depending on the severity of the disease. Most individuals with HS have
moderate disease. People with mild HS may be unaware they have the disease.

Anemia

Spherocytosis causes your red blood cells to break down
faster than healthy cells do, which can lead to anemia. If spherocytosis causes
anemia, you may appear paler than normal. Other common symptoms of anemia from
hereditary spherocytosis can include:

fatigue

shortness of breath

irritability

dizziness or lightheadedness

increased heart rate

headache

heart palpitations

jaundice

Jaundice

When a blood cell breaks down, the pigment bilirubin is
released. If your red blood cells break down too quickly, it leads to too much
bilirubin in your bloodstream. An excess of bilirubin can cause jaundice.
Jaundice causes the skin to turn yellowish or bronze. The whites of the eyes can
also turn yellow.

Gallstones

Excess bilirubin can also cause gallstones, which can develop
in your gallbladder when too much bilirubin gets into your bile. You may not
have any symptoms of gallstones until they cause a blockage. Symptoms may
include:

sudden pain in your upper
right abdomen or below your breastbone

sudden pain in your right
shoulder

decreased appetite

nausea

vomiting

fever

jaundice

Symptoms in children

Infants may show slightly different signs of spherocytosis.
Jaundice is the most common symptom in newborns, rather than anemia, especially
in first week of life. Call your child’s pediatrician if you notice that your
infant:

has yellowing of the eyes or
skin

is restless or irritable

has difficulty feeding

sleeps too much

produces fewer than six wet
diapers per day

The onset of puberty may be delayed in some children who
have HS. Overall, the most common findings in hereditary spherocytosis are
anemia, jaundice, and an enlarged spleen.

Cause

Hereditary spherocytosis is caused by a genetic defect. If
you have a family history of this disorder, your chances of developing it are
higher than someone who does not. People of any race can have hereditary
spherocytosis, but it’s most common in people of Northern European descent.

How
it’s diagnosed

HS is most often diagnosed in childhood or early adulthood.
In about 3 out
of 4 cases, there’s a family history of the condition. Your doctor will ask
you about the symptoms you have. They’ll also want to know about your family
and medical history.

Your doctor will perform a physical exam. They will check for
an enlarged spleen, which is usually done by palpating different regions of
your abdomen.

It’s likely your doctor will also draw your blood for
analysis. A complete blood count test will check all your blood cell levels and
the size of your red blood cells. Other types of blood tests can also be
useful. For example, viewing your blood under the microscope allows the doctor to
see the shape of your cells, which can help them determine if you have the
disorder.

Your doctor may also order tests that check your bilirubin
levels.

Complications

Gallstones

Gallstones are common in hereditary spherocytosis. Some research has
shown that up to half of people with HS will develop gallstones by the time
they are between 10 and 30 years old. Gallstones are hard, pebble-like deposits
that form inside your gallbladder. They range greatly in size and number. When
they obstruct the duct systems of the gallbladder, they can cause severe abdominal
pain, jaundice, nausea, and vomiting.

It’s recommended that people with gallstones have their gallbladder
surgically removed.

Enlarged spleen

An enlarged spleen is also common in HS. It is estimated that about 7 out of 10
people with HS will develop an enlarged spleen. A splenectomy, or
procedure to remove the spleen, can solve the symptoms of HS, but it can lead
to other complications.

The spleen plays an important role in the immune system, so removing it can
lead to increased risk of certain infections. To help decrease this risk, your
doctor will likely give you certain immunizations (including the Hib, pneumococcal,
and meningococcal vaccines) before removing your spleen.

Some research
has looked at removing only part of the spleen to decrease the risk of infections.
This may be especially useful in children.

After your spleen is removed, your doctor will give you a prescription for
preventive antibiotics that you take by mouth daily. The antibiotics can help
further lower your risk of infections.

Treatment
options

There is no cure for HS, but it can be treated. The severity
of your symptoms will determine which course of treatment you receive. Options
include:

Surgery: In moderate
or severe disease, removing the spleen can prevent common complications that
result from hereditary spherocytosis. Your red blood cells will still have
their spherical shape, but they’ll live longer. Removing the spleen can also
prevent gallstones.

Not everyone with this condition needs to have their spleen
removed. Some mild cases can be treated without surgery. Your doctor might
think less invasive measures are better suited for you. For example, surgery is
not recommended for children who are younger than 5 years.

Vitamins: Folic
acid, a B vitamin, is usually recommended for everyone with HS. It helps you
make new red blood cells. A daily dose of oral folic acid is the main treatment
option for young children and people with mild cases of HS.

Transfusion: You
may need red blood cell transfusions if you have severe anemia.

Light therapy: The
doctor might use light therapy, also called phototherapy, for severe jaundice
in infants.

Vaccination: Getting
routine and recommended vaccinations are also important to prevent
complications from infections. Infections can trigger the destruction of red
blood cells in people with HS.

Long-term
outlook

Your doctor will develop a treatment plan for you based on
the severity of your disease. If you have your spleen removed, you will be more
susceptible to infections. You will need lifelong preventive antibiotics after
surgery.

If you have mild HS, you should take your supplements as
instructed. You should also check in with your doctor regularly to make sure
the condition is managed well.

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Written by: Carmella Winton: Jun 22, 2017

This feature is for informational purposes only and should not be used to replace the care and information received from your health care provider. Please consult a health care professional with any health concerns you may have.